胚胎植入前遗传学诊断在平衡易位携带者中的作用

来源 :世界核心医学期刊文摘(妇产科学分册) | 被引量 : 0次 | 上传用户:guohiahong9999
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Objective Preimplantation genetic diagnosis is an established techniq ue that p rovides an alternative to prenatal diagnosis for patients who are at risk of tra nsmitting a serious genetic disorder to their offspring. Preimplantation genetic diagnosis has been used for couples who have been at risk for having offspring with single gene or X-linked disorders and for screening for common age-relate d aneuploidy and in couples who themselves carry balanced chromosomal rearrangem ents. The aim of this study was to summarize our experience using preimplantatio n genetic diagnosis after the identification of a parental balanced translocatio n, specifically as it relates to the number of embryos that are suitable for tra nsfer after preimplantation genetic diagnosis for a known translocation and aneu ploidy screening. Study design This is a retrospective review of data from a sin gle center that involved 6 couples that initiated the process of preimplantation genetic diagnosis for translocation and aneuploidy screening by fluorescent in situ hybridization. Results A total of 65 embryos were obtained, of which 56 emb ryos (86%) were suitable for fluorescent in situ hybridization analysis. After fluorescent in situ hybridization, 1 embryo was diagnosed as normal or balanced (1.7%). Forty-three embryos (76.8%) were unbalanced for the translocation; 8 embryos (14.3%) were aneuploid, and 4 embryos (7.1%) were uninformative. There were no clinical pregnancies. Conclusion In our experience, there are very few embryos that are available for transfer from these patients after translocation and aneuploidy screening because of multiple unbalanced segregation products and a high rate of aneuploidy. Factors that contributed to this may be related to w hich parent carries the translocation, methods that were used for in vitro ferti lization, and advanced maternal age. Although preimplantation genetic diagnosis for translocation carriers theoretically can enhance the pregnancy rate for a co uple, there are limitations. This information should be shared with couples who are contemplating preimplantation genetic diagnosis for translocation, and the o ptions of sperm or egg donor should be considered. Objective Preimplantation genetic diagnosis is an established techniq ue that p rovides an alternative to prenatal diagnosis for patients who are at risk of tra nsmitting a serious genetic disorder to their offspring. Preimplantation genetic diagnosis has been used for couples who have been at risk for having offspring with single gene or X-linked disorders and for screening for common age-relate d aneuploidy and in couples who have carry balanced chromosomal rearrangements. The aim of this study was to summarize our experience using preimplantation rationale genetic testing after the identification of a parental balanced translocatio n, specifically as it relates to the number of embryos that are suitable for tra nsfer after preimplantation genetic diagnosis for a known translocation and aneu ploidy screening. Study design This is a retrospective review of data from a sin gle center that involved 6 couples that initiated the process of preimplantation genetic diagnosis for translocati on and aneuploidy screening by fluorescent in situ hybridization. Results A total of 65 embryos were obtained, of which 56 emb ryos (86%) were suitable for fluorescent in situ hybridization analysis. After fluorescent in situ hybridization, 1 embryo was diagnosed as normal or There are no clinical pregnancies. There are no clinical pregnancies. Conclusion In our experience, there was no change in the number of embryos there are very few embryos that are available for transfer from these patients after translocation and aneuploidy screening because of multiple imbalanced segregation products and a high rate of aneuploidy. Factors that contributed to this may be related to w hich parent carries the translocation, methods that were used for in vitro fertilization, and advanced maternal age. Although preimplantation genetic diagnosis for translocation carriers theoretically can enhance the pregnancy rate for aThis information should be shared with couples who are contemplating preimplantation genetic diagnosis for translocation, and the o ptions of sperm or egg donor should be considered.
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